Canonical Allele Identifier: CA519344572
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1079108
ClinVar RCV Id: RCV001394257
dbSNP Id: rs782232933
gnomAD v4: X-153688718-C-G
MyVariant Identifiers: chrX:g.152954173C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688718C>G , CM000685.2:g.153688718C>G GRCh38
NC_000023.10:g.152954173C>G , CM000685.1:g.152954173C>G GRCh37
NC_000023.9:g.152607367C>G NCBI36
NG_012016.1:g.5422C>G
NG_012016.2:g.5422C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.144C>G (SLC6A8) MANE Select ENSP00000253122.5:p.Ala48=
ENST00000253122.9:c.144C>G (SLC6A8) ENSP00000253122.5:p.Ala48=
ENST00000458354.5:c.-3+97G>C (PNCK) ENSP00000401542.1:n.-3+97G>C
ENST00000480693.1:n.64+97G>C (PNCK)
NM_001142805.1:c.144C>G (SLC6A8) NP_001136277.1:p.Ala48=
NM_005629.3:c.144C>G (SLC6A8) NP_005620.1:p.Ala48=
NM_005629.4:c.144C>G (SLC6A8) MANE Select NP_005620.1:p.Ala48=
NM_001142805.2:c.144C>G (SLC6A8) NP_001136277.1:p.Ala48=
Search 100 bp 5'
Search 100 bp 3'